RT Journal Article
SR Electronic
T1 Arterioectatic Spinal Angiopathy of Childhood: Clinical, Imaging, Laboratory, Histologic, and Genetic Description of a Novel CNS Vascular Pathology
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
DO 10.3174/ajnr.A7551
A1 T. Abruzzo
A1 R. van den Berg
A1 S. Vadivelu
A1 S.W. Hetts
A1 M. Dishop
A1 P. Cornejo
A1 V. Narayanan
A1 K.E. Ramsey
A1 C. Coopwood
A1 E.G. Medici-van den Herik
A1 S.D. Roosendaal
A1 M. Lawton
A1 S. Bernes
YR 2022
UL http://www.ajnr.org/content/early/2022/06/30/ajnr.A7551.abstract
AB SUMMARY: Pediatric patients with myelopathy expressing intradural spinal vascular ectasia without arteriovenous shunting were studied at four tertiary referral neuropediatric centers. Patients were identified by retrospective review of institutional records and excluded if spinal vascular pathology could be classified into a previously described category of spinal vascular malformation. Four patients meeting the study criteria were enrolled in the study. Clinical, magnetic resonance imaging, catheter-directed angiography, laboratory, histological and genetic data were analyzed to characterize the disease process and elucidate underlying pathomechanisms. Our study revealed a highly lethal, progressive multi-segmental myelopathy associated with a unique form of non-inflammatory spinal angiopathy featuring diffuse enlargement and tortuosity of spinal cord arteries, spinal cord hyperemia, and spinal cord edema (Arterioectatic Spinal Angiopathy of Childhood). The condition was shown to mimic venous congestive myelopathy associated with pediatric spinal cord arteriovenous shunts on MRI but to have distinct pathognomonic findings on catheter-directed angiography. Clinicopathological, genetic, and neuroimaging features, which are described in detail, closely overlap with those of mitochondrial disease.AESAarterioectatic spinal angiopathyAVarteriovenousCPAcerebral proliferative angiopathyRMAradiculomedullary arteryWESwhole exome sequencing